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April 17-18, 2019 | Frankfurt, Germany
Parkinson’s, Huntington’s & Movement Disorders
International Conference on
Journal of Brain and Neurology | Volume 3
Comprehensive approach for genomic characterization of individuals with
Parkinson’s disease
Bashayer Al Mubarak
King Faisal Specialist Hospital and Research Centre, Saudi Arabia
T
he majority of available genetic tests for
Parkinson’s disease are focused on a limited
number of genes. These testsmaynot be informative
particularly with the increasingly recognized genetic
heterogeneity of PD. As more than 40 candidate
genes have been discovered through whole-exome
sequencing (WES) oriented studies, in addition
to a number of genes previously identified by
linkage and candidate gene approaches. Therefore,
implementing a genetic assessment workflow that
can capture the genetic lesions typically found in PD
(copynumbervariations(CNVs)andsinglenucleotide
variants (SNVs)), is essential for a comprehensive
molecular characterization. In this study, we devised
an integrative genomic evaluation workflow that
can capture both SNVs and CNVs. The multistage
strategy that we have employed involves screening
samples for CNVs in known PD genes, followed by
WES and variant prioritization. By applying this
approach we have successfully identified 125 novel
rare variants in 85% of our cases including 22 high
confidence ones. All the discovered variants were
present in new candidates genes that have not been
previously reported in PD except for two (EIF4G1
and ATP13A2). Our combined molecular approach
provides a comprehensive strategy applicable for
complex genetic disorders.
e
:
bai-mubarak@kfshrc.edu.sa